| Debug Stats | ### Total Build Time: 38 ms 42.721 KB CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 346 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 414 bytes- Skipping details on:
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Genes (12)
Species:
human : 12 | |
| Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | INFERRED, Score=800, UMLKSK CUI: C0078918 | | Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | INFERRED, Score=800, UMLKSK CUI: C0078918 | | Human | VPS33A | 65082 | vacuolar protein sorting 33 homolog A (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C0078918 | | Human | SLC45A2 | 51151 | solute carrier family 45, member 2 | tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1 Ten novel mutations; one deletion, two frameshift mutations, and seven missense mutations were found in German patients with oculocutaneous albinism type 4 mutation underlies new form of oculocutaneous albinism, OCA4 The purpose of this study was to investigate the molecular basis of Oculocutaneous albinism among Indians using SLC45A2 as the candidate gene | | Human | RAB38 | 23682 | RAB38, member RAS oncogene family | Not a new major locus for Japanese oculocutaneous albinisms | | Human | ABCC4 | 10257 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | INFERRED, Score=800, UMLKSK CUI: C0078918 | | Human | AP3B1 | 8546 | adaptor-related protein complex 3, beta 1 subunit | A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis Two nonsense mutations in ADTB3A, C1578T (R-->X) and G2028T (E-->X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency | | Human | TYRP1 | 7306 | tyrosinase-related protein 1 | We have identified the first TYRP1 mutation in non-Africans and have confirmed that TYRP1 mutations are associated with a milder phenotype of oculocutaneous albinism | | Human | TYR | 7299 | tyrosinase | tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population Title:Tyrosinase gene mutations associated with type IB (yellow) oculocutaneous albinism.|Association:Y|Conclusion:Not Found Data show that oculocutaneous albinism soluble tyrosinase is an endoplasmic reticulum-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78, but not calnexin role of P protein and tyrosinase in oculocutaneous albinism DNA variations - mutations and polymorphisms - in about 150 patients with Oculocutaneous albinism Missense mutations in the tyrosinase gene is asociated with oculocutaneous albinism type 1 Results describe a series of new mutations in the OCA genes, and their role in the molecular diagnosis of oculocutaneous albinism a tyrosinase mutation may have a role in type 1A oculocutaneous albinism (case report) | | Human | OCA2 | 4948 | oculocutaneous albinism II | role of P protein and tyrosinase in oculocutaneous albinism The macular hypoplasia has to be considered a concerted interaction with compound heterozygous mutations in the P gene manifesting a mild form of oculocutaneous albinism two missense substitutions, A481T and Q799H in the P gene in oculocutaneous albinism Oculocutaneous albinism phenotype (OCA2) can be modified by mutation in TYRP1 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population | | Human | MC1R | 4157 | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | Title:MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).|Association:Y|Conclusion:This is the first demonstration of a gene modifying the OCA phenotype in humans. mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the six of eight who continued to have red hair after birth; the first demonstration of a gene modifying the oculocutaneous albinism phenotype in humans | | Human | HPS1 | 3257 | Hermansky-Pudlak syndrome 1 | INFERRED, Score=800, UMLKSK CUI: C0078918 |
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